Researchers initially set out to investigate the relationship between copper homeostasis and the rare Menkes disease, but they also found links to Parkinson’s.
Discovering the molecular mechanisms underlying disease-causing genetic mutations can be challenging. Biologists Stephanie Zlatic and Victor Faundez of Emory University took a novel approach to this problem: they compared the proteomes of patients with Menkes disease, a rare disorder, to those of healthy relatives. People with the condition have a single-gene mutation that prevents their bodies from regulating levels of copper, which is needed for normal growth and development and is integral to some metabolic pathways. The metal’s depletion results in developmental delays, intellectual disabilities, and, often, death.